Make A Child Smile

Matthew's Story
written by dad Terry

My name is Terry and my wife is Lisa. Matthew is the youngest of our three sons. He was born at 37 weeks weighing 7 lbs 3½ oz and 20 inches long. He was perfectly normal at birth. Matthew was a happy baby and hardly ever cried.

Matthew grew fine until about 6 months of age. He weighed 20 pounds at his 6 month check up and was meeting all of his milestones. At his 1 year old checkup, his pediatrician noticed that he had plateaued on his growth chart. Matthew weighed 19 pounds.

Matthew has stopped growing. He currently weighs 19 pounds and is only 30½ inches tall. He has not grown at all for almost 2 years, staying the same weight that he was at 6 months of age. Matthew stopped gaining weight and has severe abdominal bloating and constipation. This was the first sign of something being wrong with Matthew. Matthew also did not walk until he was 19½ months old. Even now, he prefers to sit.

Matthew gets abdominal bloating every day and the bloating goes away when he sleeps (View Pictures). Matthew eats on average 1,000 - 1,200 calories per day. He has had no vomiting or diarrhea which would suggest some form of a Malabsorption Syndrome. Matthew has had extensive medical testing to find out what is wrong with him. He was admitted to the hospital 4 different times in 2006 to find out what is wrong with him. Two of them were at Fletcher Allen Health Care in Burlington, Vermont and two were at Children's Hospital Boston in Boston, Massachusetts.

So far, most of Matthew's testing has come back negative. He has had 3 colonoscopies, x-rays, an MRI of his head, a CT scan of his abdomen, rectal, colonic, and duodenal motility testing and many other diagnostic and blood tests. He has been ruled out for Celiac disease, Chrohn's disease, Colitis (3 normal colonoscopies). He has been tested for Cystic Fibrosis (with 3 normal sweat tests and CF Ambry genetic testing) and that was negative. He is currently being followed by Dr. John Watkins at Children's Hospital who is coordinating Matthew's care with the other specialists.

Matthew's hospitalization in December 2006, found that he has some urinary problems. They found that he has urinary reflux, enlarged bladder, and megaureters. Matthew will be going back to Children's Hospital soon for more testing to see if he will need surgery to correct the urinary reflux.

Matthew has poor muscle tone and very low muscle mass. His cognitive skills are at age level and above average in some areas. The doctors are reassured that whatever nourishment he is able to process is keeping his brain functioning normally. Matthew has a voracious appetite and gets more than enough calories from the food he eats. His doctors tell us that Matthew should be growing with the amount of food he eats. He sleeps a lot and is not very active. He likes to sit on the couch and watch TV, look at books, and do puzzles, etc. He is now on vitamin supplementation and receives speech and physical therapy. He was admitted in April 07 for a central line placement to have IV nutrition. He was unable to tolerate the IV feedings.

He swelled overnight with the first treatment gaining over three pounds. He spent the whole next day urinating the extra fluid out. They attempted a smaller amount of nutrition but he still wasn't able to tolerate even 3 oz before he got sick. The central line was removed because the risk of something happening to it, outweighed the benefits. He still needs to see an ophthalmologist for his eyes.

Then in April of 2008, after nearly 3 years of trying to figure out what is wrong with Matthew we finally have some answers. The results from Matthew's testing in Atlanta have come back. Matthew tested positive for Complex I and Complex III Mitochondrial Disease. There were also some other results that were abnormal that will need further investigation. Dr. Shoffner's note summarized the results and included his recommendations for Matthew.

I spoke to Dr. Berry, Matthew's metabolic doctor in Boston, about Matthew's test results and what we need to do. Dr. Berry also agrees with the additional testing Dr. Shoffner wants done. It's called Mitochondrial DNA Sequencing. This will tell us where the defect in the mitochondria is and how it was transmitted to Matthew. This is important because it will tell us if Bradley and Steven will need to be tested for Mito disease.

Lisa and I are relieved to finally know what Matthew has. After all this time we were wondering if we were ever going to have an answer. Certainly the mito diagnosis is not what we wanted for Matthew but at least we know what to expect and what to watch for. Mito disease, like cancers, have many different types from very mild to very severe.

For those of you who would like more info on Mitochondrial disease, please visit www.umdf.org they have an excellent overview of this disease.

Lisa and I would like to thank each and everyone of you who have followed us through this. Each note, letter, comment of encouragement was and is still greatly appreciated. Thank you.